rs770407719, LIPA

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cholesterol Ester Storage Disease
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
5 0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1995 1995
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1995 1995
Wolman Disease
CUI: C0043208
Disease: Wolman Disease
35 0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1995 1995